Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center

Abstract

BACKGROUND Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic atrophy to cortical blindness in affected individuals; however, congenital glaucoma has been recently noticed among AGS pediatric patients. According to the literature, aniridia has never been recognized among AGS patients. CASE REPORT We report the case of a 4-year-old boy with AGS who had multiple congenital anomalies in the eyes. He was found to have congenital glaucoma, nystagmus, spherophakia with shallow chambers, and aniridia in both eyes. Family history was positive for glaucoma, with consanguineously married parents. According to the genetics report, both parents are carriers of congenital glaucoma genes. A whole-exome sequencing identified IFIH1 heterozygous missense mutation of the patient, which is associated with AGS Type 7. Also, he was diagnosed as having congenital glaucoma with CYP1B1 mutation, homozygous recessive. This case demonstrates the unusual coexistence of bilateral aniridia, a feature not previously reported in ocular findings of AGS. CONCLUSIONS In summary, this is the first reported case of aniridia with AGS-related congenital glaucoma in the literature. This paper summarizes the usual ocular manifestation of AGS, also it highlights atypical ocular features in both; AGS as well as congenital glaucoma. The aim of this paper is to lay the foundation for a national database on AGS in Saudi Arabia, which will help create a bridge between genetic data and clinical findings of AGS patients.

Figure 1.

Extraocular pictures; (A, B) Right eye showing aniridia with complete absence of the iris with positive signs of congenital glaucoma show corneal clouding, increased corneal diameter, and congested conjunctiva. (C, D) Left eye showing partial absence of iris (irregular iris), a sign of aniridia, with increased corneal diameter, a sign of congenital glaucoma.

Figure 2.

MRI brain; (A) Reveals moderate cerebral atrophy, the ventricular dilatation is proportionate to the amount of cortical atrophy. (B) Prominent optic nerve on the right side as a sign of starching, most likely due to the severe congenital glaucoma of the same side. (C) There is no basal ganglia calcification on MRI, which is unusual in AGS. (D) Increased corneal thickness is appreciated more on the right side.